tl_files/tiny_templates/Bilder TL/Header-sSMC.jpg

- sSMC 12 -

REFERENCES

 

     0.   Liehr et al. unpublished data

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    Pallister-Killian syndrome: normal karyotype in prenatal chorionic villi, in postnatal lymphocytes, and in slowly growing epidermal cells, but mosaic tetrasomy 12p in skin fibroblasts.
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    Prenatal diagnosis of tetrasomy 12p by in situ hybridization: varying levels of mosaicism in different fetal tissues.
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    Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.
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    The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.
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